Inherited white matter disorders
Gene: ATPAF2EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 10 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Only 1 family reported but green on mitochondrial panel. Leave as amber here for now until decision re mt panel.Created: 6 Oct 2016, 9:27 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Rated green and diagnostic-grade by expert reviewer, however only one case found in the literature (PMID: 14757859). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 12 Aug 2016, 11:40 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_669
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex V disorders
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 608918
- Clinvar variants
- Variants in ATPAF2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex V deficiency
- Mitochondrial disorders
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATPAF2 were set to 14757859; 25655951;21815885 (no variants identified)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATPAF2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ATPAF2 were set to 14757859; 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ian Berry (Leeds Genetics Laboratory)ATPAF2 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)ATPAF2 was added to Inherited white matter disorderspanel. Sources: Expert list